Výsledky vyhledávání - "Allison L. Cirino"

Akademický článek

Deletion of entire LMNA gene as a cause of cardiomyopathy

Autor: Allison L. Cirino, MS, Sarah Cuddy, MD, Neal K. Lakdawala, MD

Publikováno v: HeartRhythm Case Reports, Vol 6, Iss 7, Pp 395-397 (2020)

Externí odkaz: https://doaj.org/article/74f57b561133460a96b5b7bbfa0e27f1

Akademický článek

The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication

Autor: Stephanie Harris, Allison L. Cirino, Christina W. Carr, Hiwot M. Tafessu, Siddharth Parmar, Jeffrey O. Greenberg, Lara E. Szent‐Gyorgyi, Roya Ghazinouri, Michelle G. Glowny, Kara McNeil, Efthalia F. Kaynor, Catherine Neumann, Christine E. Seidman, Calum A. MacRae, Carolyn Y. Ho, Neal K. Lakdawala

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)

Abstract Background Individuals with hypertrophic cardiomyopathy (HCM), even when asymptomatic, are at‐risk for sudden cardiac death and stroke from arrhythmias, making it imperative to identify individuals affected by this familial disorder. Conse

Externí odkaz: https://doaj.org/article/b800619684d7498f8da08e6eedcb416f

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Cascade testing for inherited cardiac conditions: Risk perception and screening after a negative genetic test result

Autor: Kelsey M. Fusco, Robyn J. Hylind, Allison L. Cirino, Stephanie L. Harris, Steven A. Lubitz, Dominic J.R. Abrams, Neal K. Lakdawala

Publikováno v: Journal of Genetic Counseling. 31:1273-1281

First-degree relatives of a proband with an inherited cardiac condition (ICC) are offered predictive genetic testing for the pathogenic or likely pathogenic (P/LP) cardiac gene variant (CGV) to clarify their risk for the familial condition. Relatives

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bc9fef8d6360e349b16bcc3e32db241
https://doi.org/10.1002/jgc4.1602

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Transgender and gender-diverse (TGD) individuals’ perspectives on research seeking genetic variants associated with TGD identities: a qualitative study

Autor: Allison L Cirino, Tala Berro, Antoine Rajkovic, Diane R. Koeller, Kimberly Zayhowski

Publikováno v: J Community Genet

Recent genetic research has explored how genetic variants may contribute to gender dysphoria and transgender and gender-diverse (TGD) identities. When investigating communities that have been marginalized, it is important for researchers to incorpora

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c9d77ee0c6d104e5ea161397ba4e6a
https://doi.org/10.1007/s12687-021-00554-z

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing

Autor: Lisa M. Dellefave-Castillo, Allison L. Cirino, Thomas E. Callis, Edward D. Esplin, John Garcia, Kathryn E. Hatchell, Britt Johnson, Ana Morales, Ellen Regalado, Susan Rojahn, Matteo Vatta, Robert L. Nussbaum, Elizabeth M. McNally

Publikováno v: JAMA cardiology. 7(9)

Genetic testing can guide management of both cardiomyopathies and arrhythmias, but cost, yield, and uncertain results can be barriers to its use. It is unknown whether combined disease testing can improve diagnostic yield and clinical utility for pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8aa530ec4e6eab22db073d2d586dd22
https://pubmed.ncbi.nlm.nih.gov/35947367

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The uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy-A systematic review and meta-analysis

Autor: Allison L. Cirino, Stephanie L. Harris, Andrea M. Murad, Brittany Hansen, Jennifer Malinowski, Jaime L. Natoli, Melissa A. Kelly, Susan Christian

Publikováno v: Journal of genetic counselingREFERENCES. 31(6)

Genetic testing and genetic counseling are routinely indicated for patients with hypertrophic cardiomyopathy (HCM); however, the uptake and utility of these services is not entirely understood. This systematic review and meta-analysis summarizes the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e627b130d7e14d70d25bd8f6daa06ee
https://pubmed.ncbi.nlm.nih.gov/35799446

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Parenthood among individuals with Turner syndrome: results of an online survey of attitudes towards pregnancy, adoption, and surrogacy

Autor: Erin Falsey, Allison L. Cirino, Emma Snyder, Marcie Steeves, Angela E. Lin

Publikováno v: J Community Genet

Choosing a route to parenthood can be a difficult decision for individuals with Turner syndrome, who must consider the unlikely possibility of spontaneous pregnancy, the potential need for assisted reproductive technology such as in vitro fertilizati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::983455713925706dde548f9307da5853
https://europepmc.org/articles/PMC9270542/

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Considerations for Cardiovascular Genetic and Genomic Research With Marginalized Racial and Ethnic Groups and Indigenous Peoples: A Scientific Statement From the American Heart Association

Autor: Yan V. Sun, Vicky A. Cameron, Allison L Cirino, Maui Hudson, Gia Mudd-Martin, Keolu Fox, Veronica Barcelona, Jacquelyn Y. Taylor

Publikováno v: Circulation: Genomic and Precision Medicine. 14

Historically marginalized racial and ethnic groups and Indigenous peoples are burdened by significant health inequities that are compounded by their underrepresentation in genetic and genomic research. Of all genome-wide association study participant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f988bf92fd2263ba7aade3e8b54a482
https://doi.org/10.1161/hcg.0000000000000084

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